Literature DB >> 1781350

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Japanese patients.

S Fujimori1, T Tagaya, N Yamaoka, N Kamatani, I Akaoka.   

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Year:  1991        PMID： 1781350     DOI： 10.1007/978-1-4615-7703-4_22

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  4 in total

1.  Validation and steady-state analysis of a power-law model of purine metabolism in man.

Authors:  R Curto; E O Voit; A Sorribas; M Cascante
Journal:  Biochem J       Date:  1997-06-15       Impact factor: 3.857

2.  Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Authors:  Rong Fu; H A Jinnah
Journal:  J Biol Chem       Date:  2011-12-07       Impact factor: 5.157

Review 3.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501

4.  The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.

Authors:  Jun Wang; Yan Wang; Liwen Wang; Wang Yang Chen; Min Sheng
Journal:  BMC Med Genomics       Date:  2020-05-19       Impact factor: 3.063
  4 in total

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